Phenylketonuria (PKU)is a genetic disease caused by mutation of the PAH gene, which normally produces the enzyme phenylalanine hydroxase. This enzyme is essential for the conversion of the amino acid phenylalanine into tyrosine. Without the enzyme, phenylalanine builds up in the blood and tissues of various body regions. It can produce severe skin discolorations and foul odor, but also intellectual disabilities and behavioral problems. Some people may experience only one type of PKU symptoms and not the others. PKU is an example of

Question

Phenylketonuria (PKU)is a genetic disease caused by mutation of the PAH gene, which normally produces the enzyme phenylalanine hydroxase. This enzyme is essential for the conversion of the amino acid phenylalanine into tyrosine. Without the enzyme, phenylalanine builds up in the blood and tissues of various body regions. It can produce severe skin discolorations and foul odor, but also intellectual disabilities and behavioral problems. Some people may experience only one type of PKU symptoms and not the others. PKU is an example of

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PKU is an example of pleiotropy because a single genetic mutation leads to multiple manifestations, including intellectual disabilities, behavioral problems, skin discolorations, and foul odor. The different symptoms of PKU are caused by the accumulation of phenylalanine in different tissues and organs, and they all result from the same underlying genetic defect. PKU is not an example of genetic heterogeneity because it is caused by a single gene mutation, and it is not an example of complete or incomplete penetrance because all individuals with PKU have some degree of phenylalanine accumulation and its associated symptoms.

Phenylketonuria (PKU)is a Genetic Disease Caused by Mutation of the PAH